Bone density in osteogenesis imperfecta may well be normal.

Osteogenesis imperfecta (OI) is often regarded as a form of osteoporosis. However, the bone fragility is the result of defective collagen and earlier work has demonstrated that cortical thickness, in bones not previously fractured, is usually normal. We have now measured the bone mineral content of the distal forearm in 61 adult patients with well characterized OI. Three patients with the Silence type III disorder had bone mass values well below the reference interval. For the 47 type I patients and 11 type IV patients, the bone mass was significantly lower than normal (P < 0.001). However 70% of patients had values within the reference interval. One cannot therefore exclude the diagnosis of OI by finding normal values with densitometry. Diagnostic difficulties do not occur in type III patients and our main objective was to recruit as many individuals as possible with OI types I and IV. In the type IV disease, the diagnosis can be particularly difficult without a positive family history. Since the evaluation of bone density by subjective examination of radiographs is a much less precise procedure, most patients with type I and IV OI would be expected to have 'normal' appearances with this assessment. Osteogenesis imperfecta cannot be excluded on the basis of apparently normal bone density or cortical thickness with routine radiographs.